Patients and their families often wait months or years for a clear diagnosis. In fact, 50-70% of genetic diseases currently go without a diagnosis. This breakthrough can put an end to the diagnostic odyssey for people living with repeat expansion diseases.
Clinical neurologist and visiting scientist Dr Kishore Kumar is witnessing first-hand the impact of Dr Deveson’s groundbreaking work.
Dr Kumar is partnering with Garvan to bring Dr Deveson’s new method from the lab to patients like John, who has cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). CANVAS is a rare genetic disorder distinguished by a debilitating loss of coordination and balance. It was only recently discovered to be caused by an expansion in the RFC1 gene – one of the genes Dr Deveson’s work can now analyse as part of a panel.
“Many patients I see have never known what the cause of their problem is, so a diagnosis in itself can have such a profound effect.” – Dr Kishore Kumar
For John, understanding the genetic cause of his symptoms helped him and his family make choices about what was important to them. It gave his children crucial knowledge about the possibility of an inherited condition that may affect their own life plans. It’s also helped John access support, including a physiotherapist who specialises in neurological conditions and is working with him to manage his physical disabilities.
Importantly, John’s diagnosis may one day help connect him with clinical trials that are searching for answers for his disease.